A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv502e199



Internal ID22758275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67815614..67817334hg38UCSC Ensembl
chr16:67849517..67851237hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381721
hg191721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2671486, esv2661585
SamplesHG00501, NA18873, NA19116
Known GenesTSNAXIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv502e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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